ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024365
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212871
ClinVar RCV Id:
RCV000198945
RCV001081627
RCV002229027
RCV002381662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307227.1:p.Arg45Trp
CA323483
NM_001320298.2:c.133C>T